筋ジストロフィー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	SELENON	Pathogenic/Likely pathogenic	1	26138185	26138185	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275449
single nucleotide variant	NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	SELENON	Pathogenic	1	26138024	26138024	C	T	criteria provided, single submitter	ClinGen:CA10602788
Deletion	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	SELENON	Pathogenic	1	26136297	26136300	TCGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602766
single nucleotide variant	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON	Pathogenic/Likely pathogenic	1	26136244	26136244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223589,UniProtKB:Q9NZV5#VAR_019637,OMIM:606210.0008
single nucleotide variant	NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)	SELENON	Pathogenic	1	26136222	26136222	G	A	criteria provided, single submitter	ClinGen:CA339114664
single nucleotide variant	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON	Pathogenic/Likely pathogenic	1	26135641	26135641	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA696660
single nucleotide variant	NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter)	SELENON	Likely pathogenic	1	26135624	26135624	C	G	criteria provided, single submitter	ClinGen:CA339114209
Duplication	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Likely pathogenic	1	26135595	26135596	G	GCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276995
single nucleotide variant	NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	SELENON	Pathogenic/Likely pathogenic	1	26135571	26135571	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON	Pathogenic	1	26135244	26135245	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA253172,OMIM:606210.0006